TUBA8

Chr 22

tubulin alpha 8

Also known as: CDCBM8, MACTHC2, TUBAL2

NCBI Gene: 51807ENSG00000183785UniProt: Q9NY65

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMacrothrombocytopenia, isolated, 2, autosomal dominant

Clinical highlights

Gene-disease validity (ClinGen)
polymicrogyria with optic nerve hypoplasia · ARDisputedevidence questions this relationship
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TUBA8
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.31
OE 0.63 (0.38–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.89 (0.81–0.99)
250 obs / 279.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.38–1.09)
0≤0.351.4
Missense OE?0.89 (0.81–0.99)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 9 / 14.3Missense obs/exp: 250 / 279.7Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBA8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients